HGVS | Genome Assembly |
---|---|
NC_000002.12:g.71124382T>G , CM000664.2:g.71124382T>G | GRCh38 |
NC_000002.11:g.71351512T>G , CM000664.1:g.71351512T>G | GRCh37 |
NC_000002.10:g.71205020T>G | NCBI36 |
NG_008977.1:g.10883A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000244217.6:c.202A>C MANE Select | ENSP00000244217.5:p.Ile68Leu | |
ENST00000244217.5:c.202A>C | ENSP00000244217.5:p.Ile68Leu | |
ENST00000413592.5:c.70A>C | ENSP00000391140.1:p.Ile24Leu | |
ENST00000486135.1:c.-84A>C | ENSP00000441569.1:n.-84A>C | |
ENST00000494660.6:c.-84A>C | ENSP00000437361.1:n.-84A>C | |
NM_032601.3:c.202A>C | NP_115990.3:p.Ile68Leu | |
XM_005264613.2:c.202A>C | XP_005264670.1:p.Ile68Leu | |
XR_939729.1:n.271A>C | ||
XR_939729.2:n.271A>C | ||
NM_032601.4:c.202A>C MANE Select | NP_115990.3:p.Ile68Leu |